Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, et al. The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system. Genet Med. 2014;16:92–100.

Article  CAS  Google Scholar 

McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JAS, et al. 22q11.2 deletion syndrome. Nat Rev Dis Primer. 2015;1:15071.

Article  Google Scholar 

Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, et al. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008;10:267–77.

Article  Google Scholar 

Olsen L, Sparsø T, Weinsheimer SM, Dos Santos MBQ, Mazin W, Rosengren A, et al. Rearrangements in the 22q11.2 region: prevalence and population-based risk for neuropsychiatric and developmental disorders. Lancet. Psychiatry. 2018;5:573–80.

Google Scholar 

Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet. 1999;8:1157–67.

Article  CAS  Google Scholar 

Ensenauer RE, Adeyinka A, Flynn HC, Michels VV, Lindor NM, Dawson DB, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet. 2003;73:1027–40.

Article  CAS  Google Scholar 

Yu A, Turbiville D, Xu F, Ray JW, Britt AD, Lupo PJ, et al. Genotypic and phenotypic variability of 22q11.2 microduplications: an institutional experience. Am J Med Genet A. 2019;179:2178–89.

Article  CAS  Google Scholar 

Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, et al. 22q11.2 duplications: expanding the clinical presentation. Am J Med Genet A. 2022;188:779–87.

Article  CAS  Google Scholar 

Sun D, Lee J, Heimall J, Jyonouchi S. Immunodeficiency in 22q11.2 duplication syndrome. J Allergy Clin Immunol Pract. 2021;9:996–998.e3.

Article  CAS  Google Scholar 

Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2018;176:2082–6.

Article  CAS  Google Scholar 

Traynor R, Butler KM, Cant AJ, Leahy TR. Immunodeficiency in a child with 22q11.2 microduplication syndrome. J Clin Immunol. 2016;36:418–9.

Article  Google Scholar 

Garcia-Prat M, Álvarez-Sierra D, Aguiló-Cucurull A, Salgado-Perandrés S, Briongos-Sebastian S, Franco-Jarava C, et al. Extended immunophenotyping reference values in a healthy pediatric population. Cytometry B Clin Cytom. 2019;96:223–33.

Article  CAS  Google Scholar 

Luning Prak ET, Ross J, Sutter J, Sullivan KE. Age-related trends in pediatric B-cell subsets. Pediatr Dev Pathol. 2011;14:45–52.

Article  Google Scholar 

Ritchie RF, Palomaki GE, Neveux LM, Navolotskaia O, Ledue TB, Craig WY. Reference distributions for immunoglobulins A, G, and M: a practical, simple, and clinically relevant approach in a large cohort. J Clin Lab Anal. 1998;12:363–70.

Article  CAS  Google Scholar 

Portnoï M-F. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet. 2009;52:88–93.

Article  Google Scholar 

Hasten E, McDonald-McGinn DM, Crowley TB, Zackai E, Emanuel BS, Morrow BE, et al. Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome. Hum Mol Genet. 2018;27:1847–57.

Article  CAS  Google Scholar 

Wincent J, Bruno DL, van Bon BWM, Bremer A, Stewart H, Bongers EMHF, et al. Sixteen new cases contributing to the characterization of patients with distal 22q11.2 microduplications. Mol Syndromol. 2010;1:246–54.

Article  CAS  Google Scholar 

Butensky A, Rinaldis CP, Patel S, Edman S, Bailey A, McGinn DE, et al. Cardiac evaluation of patients with 22q11.2 duplication syndrome. Am J Med Genet A. 2021;185:753–8.

Article  CAS  Google Scholar 

Pebrel-Richard C, Kemeny S, Gouas L, Eymard-Pierre E, Blanc N, Francannet C, et al. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment. Eur J Med Genet. 2012;55:650–5.

Article  Google Scholar 

Hoeffding LK, Trabjerg BB, Olsen L, Mazin W, Sparsø T, Vangkilde A, et al. Risk of psychiatric disorders among individuals with the 22q11.2 deletion or duplication: a Danish nationwide, register-based study. JAMA. Psychiatry. 2017;74:282.

Google Scholar 

Wentzel C, Fernström M, Öhrner Y, Annerén G, Thuresson A-C. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008;51:501–10.

Article  Google Scholar 

Vaz SO, Pires R, Pires LM, Carreira IM, Anjos R, Maciel P, et al. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases. BMC Pediatr. 2015;15:95.

Article  Google Scholar 

Verbesselt J, Zink I, Breckpot J, Swillen A. Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: a retrospective chart study. Am J Med Genet A. 2022;188:46–57.

Article  CAS  Google Scholar 

Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, et al. What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet A. 2018;176:2058–69.

Article  CAS  Google Scholar 

Woodward KJ, Stampalia J, Vanyai H, Rijhumal H, Potts K, Taylor F, et al. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance. Mol Genet. Genomic Med. 2019;7:e00507.

Google Scholar 

Suzuki G, Harper KM, Hiramoto T, Funke B, Lee M, Kang G, et al. Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. Hum Mol Genet. 2009;18:3914–25.

Article  CAS  Google Scholar 

Jawad AF, McDonald-Mcginn DM, Zackai E, Sullivan KE. Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). J Pediatr. 2001;139:715–23.

Article  CAS  Google Scholar 

Zemble R, Prak EL, McDonald K, McDonald-McGinn D, Zackai E, Sullivan K. Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Clin Immunol Orlando Fla. 2010;136:409–18.

Article  CAS  Google Scholar 

Giardino G, Radwan N, Koletsi P, Morrogh DM, Adams S, Ip W, et al. Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. Blood. 2019;133:2586–96.

Article  CAS  Google Scholar 

Cuss AK, Avery DT, Cannons JL, Yu LJ, Nichols KE, Shaw PJ, et al. Expansion of functionally immature transitional B cells is associated with human-immunodeficient states characterized by impaired humoral immunity. J Immunol. 2006;176:1506–16.

Article  CAS  Google Scholar 

Chen M, Yang Y-S, Shih J-C, Lin W-H, Lee D-J, Lin Y-S, et al. Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization: TBX1 microdeletions/duplications in fetal CTD. Ultrasound Obstet Gynecol. 2014;43:396–403.

Article  CAS  Google Scholar 

Gibney ER, Nolan CM. Epigenetics and gene expression. Heredity. 2010;105:4–13.

Article  CAS  Google Scholar 

Zhang Z, Shi L, Song L, Maurer K, Zhao X, Zackai EH, et al. Chromatin modifications in 22q11.2 deletion syndrome. J Clin Immunol. 2021;41:1853–64.

Article  Google Scholar 

Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, et al. 22q11.2 duplications: expanding the clinical presentation. Am J Med Genet A. 2021;188A:779–87.

Google Scholar